gb HEMO EPCR (G4678C)
allelic discrimination, real-time PCR
The kit is intended for detection of mutation EPCR (G4678C) in haplotype H1 of the endothelial protein C receptor gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Endothelial protein C receptor (EPCR) is a transmembrane protein expressed in large vessel endothelial cells. Its traces can be found in most capillaries. It binds protein C on the surface of endothelial cells with high affinity, thus accelerating its activation. Protein C is activated by means of the thrombin-thrombomodulin complex and regulates thrombin production by inactivation of Factors Va and VIIIa.
Common production of activated protein C (APC) depends on the surface of endothelial cells, thrombin, thrombomodulin, protein C, and EPCR. Therefore, any change of the said components can increase or decrease APC production and influence the risk of thrombosis. EPCR G4678C polymorphism is the result of one-nucleotide G>C transversion at nucleotide 4678 of the endothelial protein C receptor gene (haplotype H1). Haplotype H1 is related to protective effect against thromboembolism and reduces also the risk of thrombosis in FV Leiden mutation carriers.
Parameters of the diagnostic kit
- ready-to-use assay
- sample concentration 1-100 ng/µl
- positive and negative controls included
- FAM and HEX channels detection
- identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
ABI 7500/7500 Fast (ABI)
AriaMx (Agilent Technologies)
iCycler iQ5 (Bio-Rad)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)